Table 2. Overview of the studies on other monogenic neurological diseases included in the systematic review.
| Authors | Year | Disease | Origin of model | Delivery to cells | Key-point(s): |
|---|---|---|---|---|---|
| Kolli et al. [110] | 2017 | HD* | YAC128 M | LV | Excised mHTT exon 1 in mesenchymal stem cells extracted from mice |
| Monteys et al. [112] | 2017 | HD*† | H, BacHD M | LF, EP, AAV | Reduced human mHTT levels in striata of treated right brain hemispheres of mice |
| Shin et al. [109] | 2016 | HD* | H | EP | Patient-specific inactivation of the mutant haplotype in patient-derived cells. |
| Xu et al. [111] | 2017 | HD* | H | NF | Editing of the mHTT lead to reversal of the phenotypic abnormalities in iPSCs |
| Yang et al. [113] | 2017 | HD*† | HD140Q-KI M | AAV | Treated 9-month old mice had reversal of neuropathology and behavioural changes |
| Marthaler et al. [122] | 2016 | SCA2* | H | NF | Replaced the CAG-expanded ATXN2 gene with a normal-sized in iPSC line H271 |
| Marthaler et al. [123] | 2016 | SCA2* | H | NF | Correction of another model of SCA2—iPSC line H195 |
| Marthaler et al. [124] | 2016 | SCA2* | H | NF | Correction of another model of SCA2 –iPSC line H266 |
| Ouellet et al. [121] | 2017 | FRDA*† | YG8R, YG8sR M | LF, EP | Removal of repeats expansion reduced FXN levels in treated YG8R-fibroblasts |
| Park et al. [116] | 2015 | FXS* | H | EP | Single gRNA-targeting of the CGG repeat led to excision of the mutation in iPSCs |
| Xie et al. [117] | 2016 | FXS* | H | LF 3000, NF | Dual cleavage of the CGG repeats within the FMR1 gene reactivated the FMR1 gene |
| Turan et al. [99] | 2016 | LGMD* | H | NF | CRISPR-cas9-ssODN-mediated HDR of point mutations in LGMD2B & LGMD2D |
| Himeda et al. [102] | 2016 | FSHMD* | H | LV | Used dCas9 fused to transcriptional effectors for DUX4 epigenetic downregulation |
| Kemaladewi et al. [104] | 2017 | MDC1A*† | dy2J/dy2J M | AAV 9 | LAMA2-editing restored Laminin2 and improved muscle strength in treated mice |
| van Agtmaal et al. [94] | 2017 | DM1* | H, M | NF | Excision of the expanded DMPK gene cleared cells from ribunuclear foci |
| Pinto et al. [96] | 2017 | DM1 *† | H, HSALR M | AAV | dCas9 regulation of mRNAexp transcription improved myotonia in treated mice |
| Batra et al. [95] | 2017 | DM1* | H, Mnk | LF 3000, LV | dCas9-cleavage of mRNAexp removed ribonuclear foci and corrected mis-splicing |
* Concept proven in vitro
† Concept proven in vivo
Abbreviations: H–human, M–mouse, Mnk–African green monkey, YAC128, BacHD, HD140Q-KI–mouse models of HD, YG8R, YG8sR–mouse models of FRDA, dy2J/dy2J –mouse model of MDC1A, HSALR–mouse model of DM1, AAV–Adeno-associated virus, LF–Lipofectamine, EP–Electroporation, NF–Nucleofection, LV–Lentivirus.